Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review

2004 ◽  
Vol 129A (3) ◽  
pp. 235-247 ◽  
Author(s):  
Stephanie E. Wallace ◽  
Ralph S. Lachman ◽  
Pertchoui B. Mekikian ◽  
Kathy K. Bui ◽  
William R. Wilcox
Keyword(s):  
Phenotypic Variability ◽  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia)

2008 ◽  
pp. 53-57
Author(s):  
Lester E. Wold ◽  
K. Krishnan Unni ◽  
Franklin H. Sim ◽  
Murali Sundaram ◽  
Claus-Peter Adler
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Camurati-Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones

2002 ◽  
Vol 107 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Gen Nishimura ◽  
Hitoshi Nishimura ◽  
Yoko Tanaka ◽  
Yoshio Makita ◽  
Shiro Ikegawa ◽  
...  
Keyword(s):  
Disease Type ◽  
Type Ii ◽  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Camurati–Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family

2005 ◽  
Vol 16 (9) ◽  
pp. 1167-1170 ◽  
Author(s):  
S. Simsek ◽  
K. Janssens ◽  
M. L. Kwee ◽  
W. Van Hul ◽  
J. Veenstra ◽  
...  
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Moroccan Family ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease)

1999 ◽  
Vol 35 (4) ◽  
pp. 401-405 ◽  
Author(s):  
F Baş ◽  
F Darendeliler ◽  
İ Petorak ◽  
B Sadikoğlu ◽  
A Bilir ◽  
...  
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease
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